Endocrinopathies in children with inborn errors of immunity: a single-center experience

This is the authors' abstract. We don't add key points for this paper.

OBJECTIVES: Inborn errors of immunity (IEI) are a diverse group of genetically inherited disorders. We aimed to summarize and discuss endocrinopathies in children with IEI. METHODS: This study included 84 IEI patients evaluated between September 2019 and September 2023. RESULTS: deficiency. Additionally, hypergonadotropic hypogonadism was observed in one of nine males with common variable immunodeficiency (CVID). Among the CVID patients, one presented with autoimmune thyroiditis (AIT), type 1 diabetes mellitus (T1DM), hypoparathyroidism, and primary adrenal insufficiency. Of the 307 patients followed for selective IgA deficiency (sIgAD), 26 also received care in pediatric endocrinology. Among the sIgAD cases, 3.2 % had AIT and 4.5 % had T1DM. A patient with a STAT1 gain-of-function (GOF) variant was diagnosed with T1DM, AIT, and growth hormone deficiency, while a patient with a novel STAT3-GOF variant developed neonatal DM and interstitial lung disease. When the whole group was evaluated, thyroid disease was the most common endocrinopathy affecting 30.9 % of individuals, followed by DM, which was observed in 20.2 % of cases. CONCLUSIONS: We have determined that AIT and T1DM were the most prevalent endocrine disorders in IEI patients. Pubertal development and gonadal functions should be monitored in the children with IEI. Early diagnosis and individualized treatment of endocrinopathies are crucial for a better quality of life and reduction of IEI-related complications.